Methylmalonic acidemia (MMA)

Methylmalonic acidemia (MMA) is a genetic condition where individuals cannot break down certain proteins and fats, leading to the build-up of harmful toxins that can cause damage to the kidneys, pancreas and brain. The symptoms of MMA typically begin very early in life and vary from mild to severe. Those with MMA can experience metabolic crises that cause vomiting, lethargy and dehydration, and may require hospitalization. Other common disease manifestations include developmental delay, intellectual disability, movement disorders, low muscle tone, poor feeding, fatigue and decreased kidney function. Chronic kidney disease may progress to the point of requiring dialysis or a kidney transplant. MMA requires lifelong management and in some cases, can be life-threatening. Current management is aimed at controlling the diet to reduce protein intake and prevention of metabolic crises caused by fasting, fever, infection, and injury. There is currently no cure.

The latest on our research

We are jumpstarting our MMA program to accelerate research on the disease to ultimately improve treatment options. We welcome all parents and caregivers interested in participating and spreading the word to the MMA community.